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SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
Background: Homozygous mutations in lamin A/C (LMNA) gene are extremely rare and have been reported to cause mandibuloacral dysplasia type A, Emery-Dreifuss muscular dystrophy-3, Charcot-Marie-Tooth axonal neuropathy type 2B1, progeroid syndrome and severe familial partial lipodystrophy. We...
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| Publicat a: | J Endocr Soc |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6552055/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-087 |
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